ArticleAmerican journal of human genetics2008
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.
Article in American journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 563 papers.
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Who cites it
563 citing papers in PubMed.
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- Obtaining a Diagnostic Yield via Scan findings prior to the introduction of SEquencing retrospectivelY (ODYSSEY): a cohort study.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2026Article
- Bridging precision agriculture and human medicine through comparative genetics.Nature reviews. Genetics · 2026Review
- A proposed organization of multifaceted knowledge in data repositories: structuring record collections and evidence sets for data lakehouses and moonshots.Journal of exposure science & environmental epidemiology · 2026Review
- Identification of novel genes with enriched expression in human intermediate progenitors reveals a key role for CDKN3 in cortical development.Stem cell reports · 2026Article
- Novel Compound Heterozygous Variants in SLC13A3 Associated With ARLIAK: A Case Report and Review of the Literature.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2026Review
- SSRI prescription during acute COVID-19 and risk of Long COVID symptoms and conditions among patients with depression.medRxiv : the preprint server for health sciences · 2026Article
- Cell type-specific contextualisation of the human phenome: towards the systematic treatment of all rare diseases.Genome medicine · 2026Article
- Refining Human Phenotype Ontology (HPO) to enable better phenotype-genotype integration in systemic autoimmune rheumatic diseases.Orphanet journal of rare diseases · 2026Article
- Embeddings of clinical codes enable knowledge-grounded AI in medicine.NPJ digital medicine · 2026Article
- G.AI: an AI-driven platform for phenotype standardization, variant interpretation and structured clinical reporting in rare disease genomic diagnosis.Journal of translational medicine · 2026Article
- A Novel Approach to Interrogating Whole Genome Sequencing Data to Optimise Clinical Utility.Molecular genetics & genomic medicine · 2026Article
- From presence to provenance: Building substantive infrastructure for China's rare disease ecosystem.Intractable & rare diseases research · 2026Review
- PheBee: A Graph-Aware System for Scalable, Traceable, and Semantic Phenotyping.medRxiv : the preprint server for health sciences · 2026Article
- Mainstreaming genomic testing for mitochondrial disease in Australia.European journal of human genetics : EJHG · 2026Article
- The FAIR journey of a patient-driven registry: Reflections and practical solutions from the Duchenne Data Platform FAIRification experience.Journal of neuromuscular diseases · 2026Article
- Brain metastases converge on shared geometric architecture and transcriptomic landscape yet remain distinct from gliomas.iScience · 2026Article
503 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors.
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Abstract
There are many thousands of hereditary diseases in humans, each of which has a specific combination of phenotypic features, but computational analysis of phenotypic data has been hampered by lack of adequate computational data structures. Therefore, we have developed a Human Phenotype Ontology (HPO) with over 8000 terms representing individual phenotypic anomalies and have annotated all clinical entries in Online Mendelian Inheritance in Man with the terms of the HPO. We show that the HPO is able to capture phenotypic similarities between diseases in a useful and highly significant fashion.
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